三岁儿童上皮层癌与右前庭延伸:一个病例报告
Maymona AlShoaibi1, Sara Hammedalnil2, Mohamed Aljughaiman3
1Pediatric Cardiology, King Salman Heart Center, King Fahad Medical City, Riyadh, SAU.
Cureus
|January 19, 2026
概括
儿科上腺皮质癌,通常与TP53突变相关,可以模仿先天性上腺增生. 这个案例展示了一个患有上腺瘤的孩子,瘤扩展到心脏,使诊断和治疗复杂化.
科学领域:
- 儿科瘤学 儿科瘤学
- 内分泌学 在内分泌学.
- 心脏病学 心脏病学
背景情况:
- 儿科上腺皮质癌是罕见的,具有攻击性,并与TP53突变相关.
- 它可以与先天性上腺增生 (CAH) 相似,带来诊断挑战.
- 上腺瘤的心内扩张异常罕见.
研究的目的:
- 报告一个独特的儿科上腺皮层癌与心内扩张的病例.
- 要突出诊断和管理的复杂性,从CAH区分开来.
- 强调TP53突变和Li-Fraumeni综合征在儿科瘤学中的影响.
主要方法:
- 一个3岁儿童的病例介绍,患有雄性化和上腺危机.
- 诊断成像包括对上腺质量和心内延伸的评估.
- 进行心脏内质量切除的手术和对TP53突变的基因检测.
主要成果:
- 这个孩子呈现出雄性化,上腺危机,以及一个巨大的右上腺质量与心内延伸到右前庭.
- 手术切除心内部分是成功的,但上腺瘤仍然存在.
- 基因检测证实TP53突变,这表明了Li-Fraumeni综合征.
结论:
- 从CAH区分儿科上腺皮质癌可能是具有挑战性的.
- 心内延伸带来了显著的手术和管理困难.
- TP53突变和Li-Fraumeni综合征是儿科上腺皮层瘤的关键因素.
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